Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102851253_102856067delCA916084430PAHc.510-735_912+434del
c.495-735_897+434del
ClinVar
12g.102852824dupCA2580085691PAHc.837dup (p.Glu280ArgfsTer3)
c.822dup (p.Glu275ArgfsTer3)
n.596dup
ClinVar
12g.102852824delCA267677PAHc.837del (p.Glu280AsnfsTer?)
c.822del (p.Glu275AsnfsTer?)
n.596del
ClinVar dbSNP
12g.102852824G>ACA229803PAHc.833C>T (p.Thr278Ile)
c.818C>T (p.Thr273Ile)
n.592C>T
ClinVar dbSNP gnomAD v4
12g.102852824G>CCA16020867PAHc.833C>G (p.Thr278Ser)
c.818C>G (p.Thr273Ser)
n.592C>G
ClinVar dbSNP
12g.102852824G=CA2059446110PAHc.833C= (p.Thr278=)
c.818C= (p.Thr273=)
n.592C=
12g.102852824G>TCA229802PAHc.833C>A (p.Thr278Asn)
c.818C>A (p.Thr273Asn)
n.592C>A
ClinVar dbSNP gnomAD v4
12g.102852824_102852835delinsGTATACATGGGCCA2059446119PAHc.822_833delinsGCCCATGTATAC (p.Lys274=)
c.807_818delinsGCCCATGTATAC (p.Lys269=)
n.581_592delinsGCCCATGTATAC
12g.102852825T>ACA386294538PAHc.832A>T (p.Thr278Ser)
c.817A>T (p.Thr273Ser)
n.591A>T
12g.102852825T>CCA229801PAHc.832A>G (p.Thr278Ala)
c.817A>G (p.Thr273Ala)
n.591A>G
ClinVar dbSNP
12g.102852825T>GCA386294539PAHc.832A>C (p.Thr278Pro)
c.817A>C (p.Thr273Pro)
n.591A>C
dbSNP
12g.102852825T=CA2059446129PAHc.832A= (p.Thr278=)
c.817A= (p.Thr273=)
n.591A=
12g.102852826_102852836delCA229788PAHc.822_832del (p.Lys274AsnfsTer5)
c.807_817del (p.Lys269AsnfsTer5)
n.581_591del
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.102852826A=CA2059446140PAHc.831T= (p.Tyr277=)
c.816T= (p.Tyr272=)
n.590T=
12g.102852826A>CCA386294540PAHc.831T>G (p.Tyr277Ter)
c.816T>G (p.Tyr272Ter)
n.590T>G
12g.102852826A>GCA242471595PAHc.831T>C (p.Tyr277=)
c.816T>C (p.Tyr272=)
n.590T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102852826A>TCA386294541PAHc.831T>A (p.Tyr277Ter)
c.816T>A (p.Tyr272Ter)
n.590T>A
12g.102852826_102852827insGCA2499221400PAHc.830_831insC (p.Thr278TyrfsTer5)
c.815_816insC (p.Thr273TyrfsTer5)
n.589_590insC
ClinVar dbSNP
12g.102852827T>ACA386294543PAHc.830A>T (p.Tyr277Phe)
c.815A>T (p.Tyr272Phe)
n.589A>T
12g.102852827T>CCA229800PAHc.830A>G (p.Tyr277Cys)
c.815A>G (p.Tyr272Cys)
n.589A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102852827T>GCA386294542PAHc.830A>C (p.Tyr277Ser)
c.815A>C (p.Tyr272Ser)
n.589A>C
12g.102852827T=CA2059446146PAHc.830A= (p.Tyr277=)
c.815A= (p.Tyr272=)
n.589A=
12g.102852828A=CA2059446150PAHc.829T= (p.Tyr277=)
c.814T= (p.Tyr272=)
n.588T=
12g.102852828A>CCA251534PAHc.829T>G (p.Tyr277Asp)
c.814T>G (p.Tyr272Asp)
n.588T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102852828A>GCA386294544PAHc.829T>C (p.Tyr277His)
c.814T>C (p.Tyr272His)
n.588T>C
gnomAD v4
12g.102852828A>TCA386294545PAHc.829T>A (p.Tyr277Asn)
c.814T>A (p.Tyr272Asn)
n.588T>A
12g.102852829C>ACA229799PAHc.828G>T (p.Met276Ile)
c.813G>T (p.Met271Ile)
n.587G>T
ClinVar dbSNP
12g.102852829C=CA2059446164PAHc.828G= (p.Met276=)
c.813G= (p.Met271=)
n.587G=
12g.102852829C>GCA386294546PAHc.828G>C (p.Met276Ile)
c.813G>C (p.Met271Ile)
n.587G>C
12g.102852829C>TCA386294547PAHc.828G>A (p.Met276Ile)
c.813G>A (p.Met271Ile)
n.587G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102852830A=CA2059446174PAHc.827T= (p.Met276=)
c.812T= (p.Met271=)
n.586T=
12g.102852830A>CCA229797PAHc.827T>G (p.Met276Arg)
c.812T>G (p.Met271Arg)
n.586T>G
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.102852830A>GCA6748837PAHc.827T>C (p.Met276Thr)
c.812T>C (p.Met271Thr)
n.586T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102852830A>TCA229795PAHc.827T>A (p.Met276Lys)
c.812T>A (p.Met271Lys)
n.586T>A
ClinVar dbSNP
12g.102852831T>ACA6748838PAHc.826A>T (p.Met276Leu)
c.811A>T (p.Met271Leu)
n.585A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102852831T>CCA229794PAHc.826A>G (p.Met276Val)
c.811A>G (p.Met271Val)
n.585A>G
ClinVar dbSNP gnomAD v4
12g.102852831T>GCA386294548PAHc.826A>C (p.Met276Leu)
c.811A>C (p.Met271Leu)
n.585A>C
12g.102852831T=CA2059446187PAHc.826A= (p.Met276=)
c.811A= (p.Met271=)
n.585A=
12g.102852832G>ACA481331332PAHc.825C>T (p.Pro275=)
c.810C>T (p.Pro270=)
n.584C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.102852832G>CCA481331333PAHc.825C>G (p.Pro275=)
c.810C>G (p.Pro270=)
n.584C>G
12g.102852832G=CA2059446191PAHc.825C= (p.Pro275=)
c.810C= (p.Pro270=)
n.584C=
12g.102852832G>TCA481331334PAHc.825C>A (p.Pro275=)
c.810C>A (p.Pro270=)
n.584C>A
12g.102852833_102852834dupCA2620514696PAHc.824_825dup (p.Met276ProfsTer?)
c.809_810dup (p.Met271ProfsTer?)
n.583_584dup
gnomAD v4
12g.102852833G>ACA229793PAHc.824C>T (p.Pro275Leu)
c.809C>T (p.Pro270Leu)
n.583C>T
ClinVar dbSNP
12g.102852833G>CCA229791PAHc.824C>G (p.Pro275Arg)
c.809C>G (p.Pro270Arg)
n.583C>G
ClinVar dbSNP
12g.102852833G=CA2059446195PAHc.824C= (p.Pro275=)
c.809C= (p.Pro270=)
n.583C=
12g.102852833G>TCA386294549PAHc.824C>A (p.Pro275His)
c.809C>A (p.Pro270His)
n.583C>A
12g.102852834G>ACA229789PAHc.823C>T (p.Pro275Ser)
c.808C>T (p.Pro270Ser)
n.582C>T
ClinVar dbSNP
12g.102852834G>CCA10602334PAHc.823C>G (p.Pro275Ala)
c.808C>G (p.Pro270Ala)
n.582C>G
12g.102852834G=CA2059446201PAHc.823C= (p.Pro275=)
c.808C= (p.Pro270=)
n.582C=

Number of alleles fetched